Grandson Diagnosed

[MomMomx2]

Well, it's been a while since I've been on. We were waiting for the blood test results to come back, for my grandson, and we just got them this afternoon.

My grandson has the deltaf508. I've been reading up on this and I've found that most information states this is the most common, yet most severe. What does that mean exactly??? I'm very worried about the Little Man and pray that he stays healthy.

Can someone please enlighten me regarding this mutation.

Thank you.

Michelle
MomMomx2 to Seth & CiCi

 

[MomMomx2]

Well, it's been a while since I've been on. We were waiting for the blood test results to come back, for my grandson, and we just got them this afternoon.

My grandson has the deltaf508. I've been reading up on this and I've found that most information states this is the most common, yet most severe. What does that mean exactly??? I'm very worried about the Little Man and pray that he stays healthy.

Can someone please enlighten me regarding this mutation.

Thank you.

Michelle
MomMomx2 to Seth & CiCi

 

[MomMomx2]

Well, it's been a while since I've been on. We were waiting for the blood test results to come back, for my grandson, and we just got them this afternoon.

My grandson has the deltaf508. I've been reading up on this and I've found that most information states this is the most common, yet most severe. What does that mean exactly??? I'm very worried about the Little Man and pray that he stays healthy.

Can someone please enlighten me regarding this mutation.

Thank you.

Michelle
MomMomx2 to Seth & CiCi

 

[MomMomx2]

Well, it's been a while since I've been on. We were waiting for the blood test results to come back, for my grandson, and we just got them this afternoon.

My grandson has the deltaf508. I've been reading up on this and I've found that most information states this is the most common, yet most severe. What does that mean exactly??? I'm very worried about the Little Man and pray that he stays healthy.

Can someone please enlighten me regarding this mutation.

Thank you.

Michelle
MomMomx2 to Seth & CiCi

 

[MomMomx2]

Well, it's been a while since I've been on. We were waiting for the blood test results to come back, for my grandson, and we just got them this afternoon.

My grandson has the deltaf508. I've been reading up on this and I've found that most information states this is the most common, yet most severe. What does that mean exactly??? I'm very worried about the Little Man and pray that he stays healthy.

Can someone please enlighten me regarding this mutation.

Thank you.

Michelle
MomMomx2 to Seth & CiCi

 

[JazzysMom]

This mutation is the most common. It is also a class 2 mutation which is more severe. As to the clinical outcome it does vary even among siblings who live in the same environment & have the same mutations.

One thing it does include is Pancreatic Insufficiency. This will require taking of Digestive Enzymes of some sort for most feedings especially those including high fats. I wasnt diagnosed until 7 & I have 2 copies of this gene.

My lungs didnt show symptoms until after my diagnosis. What led to my diagnosis was all my digestive issues.

Does your Grandson have 2 copies of this one?

 

[JazzysMom]

This mutation is the most common. It is also a class 2 mutation which is more severe. As to the clinical outcome it does vary even among siblings who live in the same environment & have the same mutations.

One thing it does include is Pancreatic Insufficiency. This will require taking of Digestive Enzymes of some sort for most feedings especially those including high fats. I wasnt diagnosed until 7 & I have 2 copies of this gene.

My lungs didnt show symptoms until after my diagnosis. What led to my diagnosis was all my digestive issues.

Does your Grandson have 2 copies of this one?

 

[JazzysMom]

This mutation is the most common. It is also a class 2 mutation which is more severe. As to the clinical outcome it does vary even among siblings who live in the same environment & have the same mutations.

One thing it does include is Pancreatic Insufficiency. This will require taking of Digestive Enzymes of some sort for most feedings especially those including high fats. I wasnt diagnosed until 7 & I have 2 copies of this gene.

My lungs didnt show symptoms until after my diagnosis. What led to my diagnosis was all my digestive issues.

Does your Grandson have 2 copies of this one?

 

[JazzysMom]

This mutation is the most common. It is also a class 2 mutation which is more severe. As to the clinical outcome it does vary even among siblings who live in the same environment & have the same mutations.

One thing it does include is Pancreatic Insufficiency. This will require taking of Digestive Enzymes of some sort for most feedings especially those including high fats. I wasnt diagnosed until 7 & I have 2 copies of this gene.

My lungs didnt show symptoms until after my diagnosis. What led to my diagnosis was all my digestive issues.

Does your Grandson have 2 copies of this one?

 

[JazzysMom]

This mutation is the most common. It is also a class 2 mutation which is more severe. As to the clinical outcome it does vary even among siblings who live in the same environment & have the same mutations.

One thing it does include is Pancreatic Insufficiency. This will require taking of Digestive Enzymes of some sort for most feedings especially those including high fats. I wasnt diagnosed until 7 & I have 2 copies of this gene.

My lungs didnt show symptoms until after my diagnosis. What led to my diagnosis was all my digestive issues.

Does your Grandson have 2 copies of this one?

 

[SJCmoon]

My son has been genetically dxed with double DF508. (He's currently 36 weeks in-utero). However, the doctor was very clear that even though this mutation is most common, it is also is variable on how it affects people.
My DH and I have taken the approach to learn all we can about what could happen, along the lines of prepare for the worst but pray for the best. It has been scary at times, but education is paramount.
The doctors told us that our DS's day would include enzymes, vitamins, precussion therapy and a nebulizer. In total the therapies would take about 2 hours of our day to administer properly.
It can all seem overwhelming, but I've been assured that once a routine is established it's easier. Also, the doctor told us to think of our son as healthy with a condition that requires us to work a bit harder to keep him that way.
I personally liked this, but DH said it's a bit simplistic.
Sorry to ramble. Good luck to your grandson and your family.

 

[SJCmoon]

My son has been genetically dxed with double DF508. (He's currently 36 weeks in-utero). However, the doctor was very clear that even though this mutation is most common, it is also is variable on how it affects people.
My DH and I have taken the approach to learn all we can about what could happen, along the lines of prepare for the worst but pray for the best. It has been scary at times, but education is paramount.
The doctors told us that our DS's day would include enzymes, vitamins, precussion therapy and a nebulizer. In total the therapies would take about 2 hours of our day to administer properly.
It can all seem overwhelming, but I've been assured that once a routine is established it's easier. Also, the doctor told us to think of our son as healthy with a condition that requires us to work a bit harder to keep him that way.
I personally liked this, but DH said it's a bit simplistic.
Sorry to ramble. Good luck to your grandson and your family.

 

[SJCmoon]

My son has been genetically dxed with double DF508. (He's currently 36 weeks in-utero). However, the doctor was very clear that even though this mutation is most common, it is also is variable on how it affects people.
My DH and I have taken the approach to learn all we can about what could happen, along the lines of prepare for the worst but pray for the best. It has been scary at times, but education is paramount.
The doctors told us that our DS's day would include enzymes, vitamins, precussion therapy and a nebulizer. In total the therapies would take about 2 hours of our day to administer properly.
It can all seem overwhelming, but I've been assured that once a routine is established it's easier. Also, the doctor told us to think of our son as healthy with a condition that requires us to work a bit harder to keep him that way.
I personally liked this, but DH said it's a bit simplistic.
Sorry to ramble. Good luck to your grandson and your family.

 

[SJCmoon]

My son has been genetically dxed with double DF508. (He's currently 36 weeks in-utero). However, the doctor was very clear that even though this mutation is most common, it is also is variable on how it affects people.
My DH and I have taken the approach to learn all we can about what could happen, along the lines of prepare for the worst but pray for the best. It has been scary at times, but education is paramount.
The doctors told us that our DS's day would include enzymes, vitamins, precussion therapy and a nebulizer. In total the therapies would take about 2 hours of our day to administer properly.
It can all seem overwhelming, but I've been assured that once a routine is established it's easier. Also, the doctor told us to think of our son as healthy with a condition that requires us to work a bit harder to keep him that way.
I personally liked this, but DH said it's a bit simplistic.
Sorry to ramble. Good luck to your grandson and your family.

 

[SJCmoon]

My son has been genetically dxed with double DF508. (He's currently 36 weeks in-utero). However, the doctor was very clear that even though this mutation is most common, it is also is variable on how it affects people.
My DH and I have taken the approach to learn all we can about what could happen, along the lines of prepare for the worst but pray for the best. It has been scary at times, but education is paramount.
The doctors told us that our DS's day would include enzymes, vitamins, precussion therapy and a nebulizer. In total the therapies would take about 2 hours of our day to administer properly.
It can all seem overwhelming, but I've been assured that once a routine is established it's easier. Also, the doctor told us to think of our son as healthy with a condition that requires us to work a bit harder to keep him that way.
I personally liked this, but DH said it's a bit simplistic.
Sorry to ramble. Good luck to your grandson and your family.

 

[MomMomx2]

I'm not sure if he has 2 copies, we go back on January 23 to find out more information from the doctors.

By your having two copies, does that mean both of your parents had the same gene and passed them onto you. My daughter and son-in-law have the same gene, which I found out only one in 15 million couples have the same gene and pass it onto their child.

My grandson is on digestive enzymes at this time and he has breathing treatments twice a day, pulmacourt, and he has to take some type of vitamin replacements - he is deficient in A&E

 

[MomMomx2]

I'm not sure if he has 2 copies, we go back on January 23 to find out more information from the doctors.

By your having two copies, does that mean both of your parents had the same gene and passed them onto you. My daughter and son-in-law have the same gene, which I found out only one in 15 million couples have the same gene and pass it onto their child.

My grandson is on digestive enzymes at this time and he has breathing treatments twice a day, pulmacourt, and he has to take some type of vitamin replacements - he is deficient in A&E

 

[MomMomx2]

I'm not sure if he has 2 copies, we go back on January 23 to find out more information from the doctors.

By your having two copies, does that mean both of your parents had the same gene and passed them onto you. My daughter and son-in-law have the same gene, which I found out only one in 15 million couples have the same gene and pass it onto their child.

My grandson is on digestive enzymes at this time and he has breathing treatments twice a day, pulmacourt, and he has to take some type of vitamin replacements - he is deficient in A&E

 

[MomMomx2]

I'm not sure if he has 2 copies, we go back on January 23 to find out more information from the doctors.

By your having two copies, does that mean both of your parents had the same gene and passed them onto you. My daughter and son-in-law have the same gene, which I found out only one in 15 million couples have the same gene and pass it onto their child.

My grandson is on digestive enzymes at this time and he has breathing treatments twice a day, pulmacourt, and he has to take some type of vitamin replacements - he is deficient in A&E

 

[MomMomx2]

I'm not sure if he has 2 copies, we go back on January 23 to find out more information from the doctors.

By your having two copies, does that mean both of your parents had the same gene and passed them onto you. My daughter and son-in-law have the same gene, which I found out only one in 15 million couples have the same gene and pass it onto their child.

My grandson is on digestive enzymes at this time and he has breathing treatments twice a day, pulmacourt, and he has to take some type of vitamin replacements - he is deficient in A&E